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Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. People with HHT can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body
Prevalence
1-5 / 10 000
33,100-165,500
US Estimated
51,350-256,750
Europe Estimated
Age of Onset
All ages
ICD-10
I78.0
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic disorder characterized by abnormal blood vessel formation, leading to arteriovenous malformations (AVMs) in various organs
FACT
HHT is typically caused by mutations in genes like ENG (endoglin) or ACVRL1 (activin receptor-like kinase 1), affecting blood vessel development and maintenance
FACT
Symptoms may include recurrent nosebleeds, telangiectasias (small, red or purple blood vessel markings) on the skin and mucous membranes, and potentially serious complications like AVMs in the lungs, liver, brain, or other organs
FACT
Diagnosis involves clinical evaluation, family history assessment, and genetic testing to confirm mutations associated with HHT
FACT
Management aims to control symptoms and prevent complications, involving treatments like laser therapy for telangiectasias, embolization or surgery for AVMs, and specific medications in some cases
Interest over time
Google searches
Common signs and symptoms
Epistaxis
Telangiectasia of the skin
Cavernous hemangioma
Cholecystitis
Microcytic anemia
Current treatments
Although current treatment cannot stop telangiectasias or arteriovenous malformations (AVMs) from forming, many of the symptoms and complications associated with hereditary hemorrhagic telangiectasia (HHT) can be treated or prevented.